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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1676",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1674",
"results": [
{
"created": "2020-08-12T18:22:37.343873+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3755",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CARD14: Rating: GREEN; Mode of pathogenicity: None; Publications: 22703878, 27760266; Phenotypes: Pityriasis rubra pilaris (MIM#173200); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CARD14",
"entity_type": "gene"
},
{
"created": "2020-08-12T18:20:05.964416+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CARD14 as ready",
"entity_name": "CARD14",
"entity_type": "gene"
},
{
"created": "2020-08-12T18:20:05.954598+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: card14 has been classified as Green List (High Evidence).",
"entity_name": "CARD14",
"entity_type": "gene"
},
{
"created": "2020-08-12T18:20:03.502732+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CARD14 were changed from to Pityriasis rubra pilaris (MIM#173200)",
"entity_name": "CARD14",
"entity_type": "gene"
},
{
"created": "2020-08-12T18:19:37.558618+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CARD14 were set to ",
"entity_name": "CARD14",
"entity_type": "gene"
},
{
"created": "2020-08-12T18:19:17.242620+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CARD14 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CARD14",
"entity_type": "gene"
},
{
"created": "2020-08-12T18:18:17.077348+10:00",
"panel_name": "Ichthyosis",
"panel_id": 124,
"panel_version": "0.85",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ABCA12 as ready",
"entity_name": "ABCA12",
"entity_type": "gene"
},
{
"created": "2020-08-12T18:18:17.063770+10:00",
"panel_name": "Ichthyosis",
"panel_id": 124,
"panel_version": "0.85",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: abca12 has been classified as Green List (High Evidence).",
"entity_name": "ABCA12",
"entity_type": "gene"
},
{
"created": "2020-08-12T18:18:13.568916+10:00",
"panel_name": "Ichthyosis",
"panel_id": 124,
"panel_version": "0.85",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ABCA12 were changed from to Ichthyosis, congenital, autosomal recessive 4A (MIM#601277); Ichthyosis, congenital, autosomal recessive 4B (harlequin) (MIM#242500)",
"entity_name": "ABCA12",
"entity_type": "gene"
},
{
"created": "2020-08-12T18:17:47.772647+10:00",
"panel_name": "Ichthyosis",
"panel_id": 124,
"panel_version": "0.84",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ABCA12 were set to ",
"entity_name": "ABCA12",
"entity_type": "gene"
},
{
"created": "2020-08-12T18:17:20.952102+10:00",
"panel_name": "Ichthyosis",
"panel_id": 124,
"panel_version": "0.83",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ABCA12 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ABCA12",
"entity_type": "gene"
},
{
"created": "2020-08-12T18:16:28.752750+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3755",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TRPV3 as ready",
"entity_name": "TRPV3",
"entity_type": "gene"
},
{
"created": "2020-08-12T18:16:28.743555+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3755",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: trpv3 has been classified as Green List (High Evidence).",
"entity_name": "TRPV3",
"entity_type": "gene"
},
{
"created": "2020-08-12T18:16:22.412646+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3755",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TRPV3 were changed from to Olmsted syndrome, MIM# 614594",
"entity_name": "TRPV3",
"entity_type": "gene"
},
{
"created": "2020-08-12T18:16:06.320353+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3754",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TRPV3 were set to ",
"entity_name": "TRPV3",
"entity_type": "gene"
},
{
"created": "2020-08-12T18:15:36.127889+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3753",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TRPV3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TRPV3",
"entity_type": "gene"
},
{
"created": "2020-08-12T18:15:15.374804+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3752",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TRPV3: Rating: GREEN; Mode of pathogenicity: None; Publications: 25285920, 22405088, 24452206; Phenotypes: Olmsted syndrome, MIM# 614594; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TRPV3",
"entity_type": "gene"
},
{
"created": "2020-08-12T18:14:43.802911+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: TRPV3: Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TRPV3",
"entity_type": "gene"
},
{
"created": "2020-08-12T18:14:07.983730+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TRPV3 as ready",
"entity_name": "TRPV3",
"entity_type": "gene"
},
{
"created": "2020-08-12T18:14:07.973346+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: trpv3 has been classified as Green List (High Evidence).",
"entity_name": "TRPV3",
"entity_type": "gene"
},
{
"created": "2020-08-12T18:14:05.115426+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TRPV3 were changed from to Olmsted syndrome, MIM# 614594",
"entity_name": "TRPV3",
"entity_type": "gene"
},
{
"created": "2020-08-12T18:12:57.158760+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TRPV3 were set to ",
"entity_name": "TRPV3",
"entity_type": "gene"
},
{
"created": "2020-08-12T18:12:31.142748+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: TRPV3 was changed from to Other",
"entity_name": "TRPV3",
"entity_type": "gene"
},
{
"created": "2020-08-12T18:12:07.517287+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TRPV3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TRPV3",
"entity_type": "gene"
},
{
"created": "2020-08-12T18:11:31.132267+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TRPV3: Rating: GREEN; Mode of pathogenicity: Other; Publications: 25285920, 22405088, 24452206; Phenotypes: Olmsted syndrome, MIM# 614594; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TRPV3",
"entity_type": "gene"
},
{
"created": "2020-08-12T18:00:33.484499+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.11",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "reviewed gene: SNAP29: Rating: GREEN; Mode of pathogenicity: None; Publications: 15968592, 21073448, 25958742, 29051910; Phenotypes: Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome (MIM#609528); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "SNAP29",
"entity_type": "gene"
},
{
"created": "2020-08-12T17:59:06.664598+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AAGAB as ready",
"entity_name": "AAGAB",
"entity_type": "gene"
},
{
"created": "2020-08-12T17:59:06.650546+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: aagab has been classified as Green List (High Evidence).",
"entity_name": "AAGAB",
"entity_type": "gene"
},
{
"created": "2020-08-12T17:59:00.910092+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AAGAB were changed from to Keratoderma, palmoplantar, punctate type IA (MIM#148600)",
"entity_name": "AAGAB",
"entity_type": "gene"
},
{
"created": "2020-08-12T17:58:34.316023+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: AAGAB were set to ",
"entity_name": "AAGAB",
"entity_type": "gene"
},
{
"created": "2020-08-12T17:58:11.445097+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: AAGAB was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "AAGAB",
"entity_type": "gene"
},
{
"created": "2020-08-12T17:57:29.691131+10:00",
"panel_name": "Ichthyosis",
"panel_id": 124,
"panel_version": "0.82",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "edited their review of gene: SNAP29: Changed rating: GREEN; Changed publications: 15968592, 21073448, 25958742, 29051910",
"entity_name": "SNAP29",
"entity_type": "gene"
},
{
"created": "2020-08-12T17:57:11.209586+10:00",
"panel_name": "Ichthyosis",
"panel_id": 124,
"panel_version": "0.82",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "gene: SNAP29 was added\ngene: SNAP29 was added to Ichthyosis. Sources: Literature\nMode of inheritance for gene: SNAP29 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SNAP29 were set to 15968592; 21073448\nPhenotypes for gene: SNAP29 were set to Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome (MIM#609528)\nReview for gene: SNAP29 was set to AMBER\ngene: SNAP29 was marked as current diagnostic\nAdded comment: At least 5 families with biallelic LoF variants associated with a multisystem disorder that includes both ichthyosis and palmar keratoderma later in development.\r\n\r\nPMID 15968592: Describes individuals from 2 unrelated consanguineous Arab Muslim families with CEDNIK syndrome. Palmoplantar keratosis and ichthyosis appeared between 5 and 11 months of age. Variant was a homozygous frameshift.\r\n\r\nPMID 21073448: Brother and sister from a consanguineous Pakistani family with CEDNIK syndrome. Phenotypes included palmoplantar keratosis and ichthyosis. Variant was a homozygous frameshift (8 hets in gnomAD).\r\n\r\nPMID 25958742: describes another Arab family with a homozygous frameshift variant. \r\n\r\nPMID 29051910: one more American Jordanian family with a homozygous nonsense variant. \nSources: Literature",
"entity_name": "SNAP29",
"entity_type": "gene"
},
{
"created": "2020-08-12T17:30:12.651784+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.8",
"user_name": "Naomi Baker",
"item_type": "entity",
"text": "reviewed gene: KRT16: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 8595410, 10839714; Phenotypes: Palmoplantar keratoderma, nonepidermolytic, focal (MIM#613000), Pachyonychia congenita 1 (MIM#167200); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KRT16",
"entity_type": "gene"
},
{
"created": "2020-08-12T17:10:16.235343+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.8",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: KRT14: Rating: GREEN; Mode of pathogenicity: None; Publications: 31525823, 16960809, 19040520; Phenotypes: Naegeli-Franceschetti-Jadassohn syndrome (MIM#161000), Dermatopathia pigmentosa reticularis (MIM#125595); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "KRT14",
"entity_type": "gene"
},
{
"created": "2020-08-12T17:00:22.967526+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.8",
"user_name": "Naomi Baker",
"item_type": "entity",
"text": "reviewed gene: JUP: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 10902626, 20130592; Phenotypes: Naxos disease (MIM#601214); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "JUP",
"entity_type": "gene"
},
{
"created": "2020-08-12T16:30:41.474985+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.114",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PRF1 as ready",
"entity_name": "PRF1",
"entity_type": "gene"
},
{
"created": "2020-08-12T16:30:41.463054+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.114",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: prf1 has been classified as Green List (High Evidence).",
"entity_name": "PRF1",
"entity_type": "gene"
},
{
"created": "2020-08-12T16:30:35.744298+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.114",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PRF1 as Green List (high evidence)",
"entity_name": "PRF1",
"entity_type": "gene"
},
{
"created": "2020-08-12T16:30:35.733976+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.114",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: prf1 has been classified as Green List (High Evidence).",
"entity_name": "PRF1",
"entity_type": "gene"
},
{
"created": "2020-08-12T16:23:16.113852+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.8",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "changed review comment from: PMID: 24671081;\r\n- 2 consanguineous families both Arabs and from the same region\r\n- palmoplantar keratoderma and woolly hair, without cardiomyopath\r\n> same p.(Ala670Val) missense\r\n\r\n*no additional reports in pubmed \nSources: Literature; to: PMID: 24671081;\r\n- 2 consanguineous families both Arabs and from the same region\r\n- palmoplantar keratoderma and woolly hair, without cardiomyopath\r\n> same p.(Ala670Val) missense\r\n\r\n*caution: disease association doesnt have ? in OMIM\r\n*no additional reports in pubmed \r\nSources: Literature",
"entity_name": "KANK2",
"entity_type": "gene"
},
{
"created": "2020-08-12T16:21:33.999833+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.8",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "gene: KANK2 was added\ngene: KANK2 was added to Palmoplantar Keratoderma and Erythrokeratoderma. Sources: Literature\nMode of inheritance for gene: KANK2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: KANK2 were set to 24671081\nPhenotypes for gene: KANK2 were set to Palmoplantar keratoderma and woolly hair\t(MIM#616099)\nPenetrance for gene: KANK2 were set to unknown\nReview for gene: KANK2 was set to RED\nAdded comment: PMID: 24671081;\r\n- 2 consanguineous families both Arabs and from the same region\r\n- palmoplantar keratoderma and woolly hair, without cardiomyopath\r\n> same p.(Ala670Val) missense\r\n\r\n*no additional reports in pubmed \nSources: Literature",
"entity_name": "KANK2",
"entity_type": "gene"
},
{
"created": "2020-08-12T14:48:07.649161+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.8",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: GJB6: Rating: GREEN; Mode of pathogenicity: None; Publications: 23219093, 19416251, 27137747; Phenotypes: Ectodermal dysplasia 2, Clouston type (MIM# 129500); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "GJB6",
"entity_type": "gene"
},
{
"created": "2020-08-12T14:38:16.730462+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.86",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FYB1 as ready",
"entity_name": "FYB1",
"entity_type": "gene"
},
{
"created": "2020-08-12T14:38:16.719833+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.86",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fyb1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "FYB1",
"entity_type": "gene"
},
{
"created": "2020-08-12T14:37:45.059223+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.86",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FYB1 as Amber List (moderate evidence)",
"entity_name": "FYB1",
"entity_type": "gene"
},
{
"created": "2020-08-12T14:37:45.000341+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.86",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fyb1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "FYB1",
"entity_type": "gene"
},
{
"created": "2020-08-12T14:37:17.938773+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.85",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FYB1 was added\ngene: FYB1 was added to Bleeding Disorders. Sources: Expert list\nMode of inheritance for gene: FYB1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FYB1 were set to 25516138; 25876182\nPhenotypes for gene: FYB1 were set to Thrombocytopenia 3, MIM#\t273900\nReview for gene: FYB1 was set to AMBER\nAdded comment: Two families reported. \nSources: Expert list",
"entity_name": "FYB1",
"entity_type": "gene"
},
{
"created": "2020-08-12T14:26:22.519783+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.84",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FOXE3 as ready",
"entity_name": "FOXE3",
"entity_type": "gene"
},
{
"created": "2020-08-12T14:26:22.509146+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.84",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: foxe3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "FOXE3",
"entity_type": "gene"
},
{
"created": "2020-08-12T14:26:18.509745+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.84",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FOXE3 were changed from to Aortic aneurysm, familial thoracic 11, susceptibility to, MIM# 617349",
"entity_name": "FOXE3",
"entity_type": "gene"
},
{
"created": "2020-08-12T14:25:35.361105+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.83",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FOXE3 were set to ",
"entity_name": "FOXE3",
"entity_type": "gene"
},
{
"created": "2020-08-12T14:25:10.088933+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.82",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FOXE3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "FOXE3",
"entity_type": "gene"
},
{
"created": "2020-08-12T14:24:42.876620+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.81",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FOXE3 as Amber List (moderate evidence)",
"entity_name": "FOXE3",
"entity_type": "gene"
},
{
"created": "2020-08-12T14:24:42.865158+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.81",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: foxe3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "FOXE3",
"entity_type": "gene"
},
{
"created": "2020-08-12T14:24:19.388246+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.80",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FOXE3: Rating: AMBER; Mode of pathogenicity: None; Publications: 30071989; Phenotypes: Aortic aneurysm, familial thoracic 11, susceptibility to, MIM# 617349; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "FOXE3",
"entity_type": "gene"
},
{
"created": "2020-08-12T14:20:54.968920+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.80",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FLNA as ready",
"entity_name": "FLNA",
"entity_type": "gene"
},
{
"created": "2020-08-12T14:20:54.958958+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.80",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: flna has been classified as Green List (High Evidence).",
"entity_name": "FLNA",
"entity_type": "gene"
},
{
"created": "2020-08-12T14:20:52.008110+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.80",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FLNA were set to ",
"entity_name": "FLNA",
"entity_type": "gene"
},
{
"created": "2020-08-12T14:20:26.491163+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.79",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FLNA were changed from to Macrothrombocytopaenia",
"entity_name": "FLNA",
"entity_type": "gene"
},
{
"created": "2020-08-12T14:20:02.718852+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.78",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FLNA was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "FLNA",
"entity_type": "gene"
},
{
"created": "2020-08-12T14:19:36.683623+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.77",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FLNA: Rating: GREEN; Mode of pathogenicity: None; Publications: 32299270; Phenotypes: Macrothrombocytopaenia; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "FLNA",
"entity_type": "gene"
},
{
"created": "2020-08-12T14:13:51.919276+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.77",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FLI1 as ready",
"entity_name": "FLI1",
"entity_type": "gene"
},
{
"created": "2020-08-12T14:13:51.910225+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.77",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fli1 has been classified as Green List (High Evidence).",
"entity_name": "FLI1",
"entity_type": "gene"
},
{
"created": "2020-08-12T14:13:47.001409+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.77",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FLI1 as Green List (high evidence)",
"entity_name": "FLI1",
"entity_type": "gene"
},
{
"created": "2020-08-12T14:13:46.991435+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.77",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fli1 has been classified as Green List (High Evidence).",
"entity_name": "FLI1",
"entity_type": "gene"
},
{
"created": "2020-08-12T14:13:14.516394+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.76",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FLI1 was added\ngene: FLI1 was added to Bleeding Disorders. Sources: Expert list\nMode of inheritance for gene: FLI1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: FLI1 were set to 24100448; 28255014; 26316623\nPhenotypes for gene: FLI1 were set to Bleeding disorder, platelet-type, 21, MIM#\t617443\nReview for gene: FLI1 was set to GREEN\nAdded comment: Association with mono-allelic variants better established than bi-allelic variants. \nSources: Expert list",
"entity_name": "FLI1",
"entity_type": "gene"
},
{
"created": "2020-08-12T14:11:49.600137+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.75",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "removed gene:FLII from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-08-12T14:10:42.541526+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.74",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FLII was added\ngene: FLII was added to Bleeding Disorders. Sources: Expert list\nMode of inheritance for gene: FLII was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: FLII were set to 24100448; 28255014; 26316623\nPhenotypes for gene: FLII were set to Bleeding disorder, platelet-type, 21, MIM#\t617443\nReview for gene: FLII was set to GREEN\nAdded comment: Sources: Expert list",
"entity_name": "FLII",
"entity_type": "gene"
},
{
"created": "2020-08-12T14:06:30.183772+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.73",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FERMT3 as ready",
"entity_name": "FERMT3",
"entity_type": "gene"
},
{
"created": "2020-08-12T14:06:30.166048+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.73",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fermt3 has been classified as Green List (High Evidence).",
"entity_name": "FERMT3",
"entity_type": "gene"
},
{
"created": "2020-08-12T14:06:25.452115+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.73",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FERMT3 as Green List (high evidence)",
"entity_name": "FERMT3",
"entity_type": "gene"
},
{
"created": "2020-08-12T14:06:25.443863+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.73",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fermt3 has been classified as Green List (High Evidence).",
"entity_name": "FERMT3",
"entity_type": "gene"
},
{
"created": "2020-08-12T14:06:01.107495+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.72",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FERMT3 was added\ngene: FERMT3 was added to Bleeding Disorders. Sources: Expert list\nMode of inheritance for gene: FERMT3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: FERMT3 were set to Leukocyte adhesion deficiency, type III, MIM#\t612840\nReview for gene: FERMT3 was set to GREEN\nAdded comment: Epistaxis, mucosal bleeding, defective platelet adhesion. \nSources: Expert list",
"entity_name": "FERMT3",
"entity_type": "gene"
},
{
"created": "2020-08-12T13:56:21.073579+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.71",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FBN1 as ready",
"entity_name": "FBN1",
"entity_type": "gene"
},
{
"created": "2020-08-12T13:56:21.056845+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.71",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fbn1 has been classified as Green List (High Evidence).",
"entity_name": "FBN1",
"entity_type": "gene"
},
{
"created": "2020-08-12T13:56:17.108855+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.71",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FBN1 were changed from to Marfan syndrome, MIM# 154700",
"entity_name": "FBN1",
"entity_type": "gene"
},
{
"created": "2020-08-12T13:55:48.515151+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.70",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FBN1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "FBN1",
"entity_type": "gene"
},
{
"created": "2020-08-12T13:55:22.511026+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.69",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FBN1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Marfan syndrome, MIM# 154700; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "FBN1",
"entity_type": "gene"
},
{
"created": "2020-08-12T13:46:48.814581+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.69",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ETV6 as ready",
"entity_name": "ETV6",
"entity_type": "gene"
},
{
"created": "2020-08-12T13:46:48.801252+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.69",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: etv6 has been classified as Green List (High Evidence).",
"entity_name": "ETV6",
"entity_type": "gene"
},
{
"created": "2020-08-12T13:46:44.071640+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.69",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ETV6 as Green List (high evidence)",
"entity_name": "ETV6",
"entity_type": "gene"
},
{
"created": "2020-08-12T13:46:44.060070+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.69",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: etv6 has been classified as Green List (High Evidence).",
"entity_name": "ETV6",
"entity_type": "gene"
},
{
"created": "2020-08-12T13:46:21.005071+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.68",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ETV6 was added\ngene: ETV6 was added to Bleeding Disorders. Sources: Expert list\nMode of inheritance for gene: ETV6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ETV6 were set to 25581430; 25807284\nPhenotypes for gene: ETV6 were set to Thrombocytopenia 5, MIM#\t616216\nReview for gene: ETV6 was set to GREEN\nAdded comment: At least 6 families reported. \nSources: Expert list",
"entity_name": "ETV6",
"entity_type": "gene"
},
{
"created": "2020-08-12T13:39:36.217645+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3752",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EPHB2 as ready",
"entity_name": "EPHB2",
"entity_type": "gene"
},
{
"created": "2020-08-12T13:39:36.207227+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3752",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ephb2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "EPHB2",
"entity_type": "gene"
},
{
"created": "2020-08-12T13:39:15.108707+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3752",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EPHB2 were changed from to Bleeding disorder, platelet-type, 22, MIM# 618462",
"entity_name": "EPHB2",
"entity_type": "gene"
},
{
"created": "2020-08-12T13:38:55.979299+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3751",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: EPHB2 were set to ",
"entity_name": "EPHB2",
"entity_type": "gene"
},
{
"created": "2020-08-12T13:38:36.602336+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3750",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: EPHB2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "EPHB2",
"entity_type": "gene"
},
{
"created": "2020-08-12T13:38:16.847418+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3749",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: EPHB2 as Amber List (moderate evidence)",
"entity_name": "EPHB2",
"entity_type": "gene"
},
{
"created": "2020-08-12T13:38:16.836748+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3749",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ephb2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "EPHB2",
"entity_type": "gene"
},
{
"created": "2020-08-12T13:37:58.562176+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3748",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: EPHB2: Rating: AMBER; Mode of pathogenicity: None; Publications: 30213874, 25370417; Phenotypes: Bleeding disorder, platelet-type, 22, MIM# 618462; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "EPHB2",
"entity_type": "gene"
},
{
"created": "2020-08-12T13:36:58.863647+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.188",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Cannot find evidence of gene-disease association in humans.; to: Experimental evidence for a role of Ephb2 in corpus callosum formation but cannot find reports of variants linking to CC abnormalities in humans.",
"entity_name": "EPHB2",
"entity_type": "gene"
},
{
"created": "2020-08-12T13:35:46.277851+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.188",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EPHB2 as ready",
"entity_name": "EPHB2",
"entity_type": "gene"
},
{
"created": "2020-08-12T13:35:46.267049+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.188",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ephb2 has been classified as Red List (Low Evidence).",
"entity_name": "EPHB2",
"entity_type": "gene"
},
{
"created": "2020-08-12T13:35:40.541132+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.188",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: EPHB2 were set to ",
"entity_name": "EPHB2",
"entity_type": "gene"
},
{
"created": "2020-08-12T13:35:13.789765+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.187",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: EPHB2 as Red List (low evidence)",
"entity_name": "EPHB2",
"entity_type": "gene"
},
{
"created": "2020-08-12T13:35:13.781906+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.187",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ephb2 has been classified as Red List (Low Evidence).",
"entity_name": "EPHB2",
"entity_type": "gene"
},
{
"created": "2020-08-12T13:34:50.154503+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.186",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: EPHB2: Rating: RED; Mode of pathogenicity: None; Publications: 26148571; Phenotypes: ; Mode of inheritance: None",
"entity_name": "EPHB2",
"entity_type": "gene"
},
{
"created": "2020-08-12T13:33:23.692274+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.67",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EPHB2 as ready",
"entity_name": "EPHB2",
"entity_type": "gene"
}
]
}